P65S (p.Pro65Ser) variant of AQP4 (Aquaporin-4)
P65S (p.Pro65Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P65S (p.Pro65Ser) variant details
- p.Pro65Ser
- cosmic curated COSV67218
- ESP rs373708376
- ExAC rs373708376
- TOPMed rs373708376
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.39
- CADD 21.90
- PolyPhen-2 0.06
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available