V39M (p.Val39Met) variant of AQP1 (Aquaporin-1)
V39M (p.Val39Met) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- Ensembl rs1791178212
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.24
- MetaLR 0.61
- MetaSVM -0.16
- CADD 15.40
- PolyPhen-2 0.08
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available