A155V (p.Ala155Val) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A155V (p.Ala155Val) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A155V (p.Ala155Val) variant details
- p.Ala155Val
- ESP rs376474403
- ExAC rs376474403
- TOPMed rs376474403
- gnomAD rs376474403
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.13
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 7.2e-05)
- Structural context available