F141L (p.Phe141Leu) variant of SLC4A1 (Band 3 anion transport protein)
F141L (p.Phe141Leu) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spherocytosis type 4; BLOOD GROUP, WALDNER; Autosomal dominant distal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
F141L (p.Phe141Leu) variant details
- p.Phe141Leu
- rs1168035577
- ClinGen CA399794889
- ClinVar RCV003136792
- ClinVar RCV005021823
- Uncertain significance
- Hereditary spherocytosis type 4; BLOOD GROUP, WALDNER; Autosomal dominant distal
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.09
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Hereditary spherocytosis type 4; BLOOD GROUP, WALDNER; Autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)