L31V (p.Leu31Val) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
L31V (p.Leu31Val) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- rs782123546
- gnomAD X-135985749-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 20.60
- PolyPhen-2 0.65
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available