V119F (p.Val119Phe) variant of AQP3 (Aquaporin-3)
V119F (p.Val119Phe) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V119F (p.Val119Phe) variant details
- p.Val119Phe
- cosmic curated COSV53048
- TOPMed rs1258943974
- gnomAD rs1258943974
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.64
- CADD 21.80
- PolyPhen-2 0.48
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available