A102V (p.Ala102Val) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A102V (p.Ala102Val) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
A102V (p.Ala102Val) variant details
- p.Ala102Val
- NCI-TCGA TCGA novel
- TOPMed rs1400997657
- gnomAD rs1400997657
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.24
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available