V131L (p.Val131Leu) variant of SLC4A1 (Band 3 anion transport protein)
V131L (p.Val131Leu) 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 Malaria, susceptibility to; Hereditary spherocytosis type 4; BLOOD GROUP--FROESE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V131L (p.Val131Leu) variant details
- p.Val131Leu
- rs766469709
- ClinGen CA8600614
- ClinVar RCV004461884
- ClinVar RCV005006408
- Uncertain significance
- Malaria, susceptibility to; Hereditary spherocytosis type 4; BLOOD GROUP--FROESE
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.25
- CADD 20.50
- PolyPhen-2 0.06
- SIFT 0.08
- ClinVar: Uncertain significance (Malaria, susceptibility to; Hereditary spherocytosis type 4; BLO)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- 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)