A52V (p.Ala52Val) variant of AQP5 (Aquaporin-5)
A52V (p.Ala52Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- gnomAD 12-49962172-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.39
- CADD 17.20
- PolyPhen-2 0.12
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available