A2V (p.Ala2Val) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
A2V (p.Ala2Val) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs1334602422
- gnomAD X-135985507-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available