A91V (p.Ala91Val) variant of AQP7 (Aquaporin-7)
A91V (p.Ala91Val) in AQP7 (Aquaporin-7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A91V (p.Ala91Val) variant details
- p.Ala91Val
- NCI-TCGA TCGA novel
- TOPMed rs1824821341
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.46
- CADD 24.30
- PolyPhen-2 0.80
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available