A4V (p.Ala4Val) variant of AQP7 (Aquaporin-7)
A4V (p.Ala4Val) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- cosmic curated COSV10645
- ESP rs143956595
- TOPMed rs143956595
- gnomAD rs143956595
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.14
- CADD 0.03
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available