P70S (p.Pro70Ser) variant of AQP5 (Aquaporin-5)
P70S (p.Pro70Ser) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- gnomAD 12-49962225-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.92
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available