A106V (p.Ala106Val) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A106V (p.Ala106Val) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A106V (p.Ala106Val) variant details
- p.Ala106Val
- ESP rs371198920
- ExAC rs371198920
- TOPMed rs371198920
- gnomAD rs371198920
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.21
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available