D38V (p.Asp38Val) variant of SLC4A1 (Band 3 anion transport protein)
D38V (p.Asp38Val) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D38V (p.Asp38Val) variant details
- p.Asp38Val
- 1000Genomes rs5035
- ESP rs5035
- ExAC rs5035
- TOPMed rs5035
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0988
- REVEL 0.12
- CADD 1.99
- PolyPhen-2 0.00
- SIFT 0.33
- EBI: Benign (in dbSNP:rs5035)
- UniProt: Benign (in dbSNP:rs5035)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available