A40V (p.Ala40Val) variant of AQP4 (Aquaporin-4)
A40V (p.Ala40Val) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- cosmic curated COSV67218
- 1000Genomes rs200221507
- ExAC rs200221507
- TOPMed rs200221507
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.74
- CADD 25.10
- PolyPhen-2 0.84
- SIFT 0.04
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available