L60V (p.Leu60Val) variant of AQP5 (Aquaporin-5)
L60V (p.Leu60Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L60V (p.Leu60Val) variant details
- p.Leu60Val
- gnomAD rs1285794353
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.21
- CADD 2.79
- PolyPhen-2 0.02
- SIFT 0.94
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available