V78L (p.Val78Leu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
V78L (p.Val78Leu) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V78L (p.Val78Leu) variant details
- p.Val78Leu
- TOPMed rs1390194882
- gnomAD rs1390194882
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.05
- CADD 17.40
- PolyPhen-2 0.09
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 2.9e-05)
- Structural context available