G20V (p.Gly20Val) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
G20V (p.Gly20Val) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- TOPMed rs1733971293
- gnomAD rs1733971293
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.09
- CADD 5.53
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available