V2F (p.Val2Phe) variant of AQP7 (Aquaporin-7)
V2F (p.Val2Phe) in AQP7 (Aquaporin-7) is a missense change. 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.
V2F (p.Val2Phe) variant details
- p.Val2Phe
- TOPMed rs1458881244
- gnomAD rs1458881244
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.20
- CADD 0.37
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available