M53V (p.Met53Val) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
M53V (p.Met53Val) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
M53V (p.Met53Val) variant details
- p.Met53Val
- gnomAD X-135985818-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 22.20
- PolyPhen-2 0.40
- SIFT 0.34
- Population evidence available
- Literature evidence available