V113D (p.Val113Asp) variant of SLC4A1 (Band 3 anion transport protein)
V113D (p.Val113Asp) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V113D (p.Val113Asp) variant details
- p.Val113Asp
- gnomAD rs1305089612
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.44
- CADD 23.10
- PolyPhen-2 0.83
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available