A18V (p.Ala18Val) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A18V (p.Ala18Val) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- TOPMed rs1733971657
- Missense
- Variant Prioritization Score for Impact Estimate 0.0822
- REVEL 0.06
- CADD 7.23
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 4.2e-05)
- Structural context available