M31T (p.Met31Thr) variant of SLC4A1 (Band 3 anion transport protein)
M31T (p.Met31Thr) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Autosomal dominant distal renal tubular acidosis; Hemolytic anemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
M31T (p.Met31Thr) variant details
- p.Met31Thr
- rs55773290
- ClinGen CA8600736
- ClinVar RCV000903910
- ClinVar RCV001122075
- Benign/Likely benign
- Autosomal dominant distal renal tubular acidosis; Hemolytic anemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.11
- CADD 2.23
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Benign/Likely benign (Autosomal dominant distal renal tubular acidosis; Hemolytic anem)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:OROQEN population (allele frequency 0.062)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)