S31L (p.Ser31Leu) variant of AQP5 (Aquaporin-5)
S31L (p.Ser31Leu) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S31L (p.Ser31Leu) variant details
- p.Ser31Leu
- gnomAD 12-49962109-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.75
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available