R87H (p.Arg87His) variant of AQP7 (Aquaporin-7)
R87H (p.Arg87His) in AQP7 (Aquaporin-7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R87H (p.Arg87His) variant details
- p.Arg87His
- rs371783551
- cosmic curated COSV99951
- ESP rs371783551
- ExAC rs371783551
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.17
- CADD 9.85
- PolyPhen-2 0.01
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available