G176R (p.Gly176Arg) variant of AQP5 (Aquaporin-5)
G176R (p.Gly176Arg) in AQP5 (Aquaporin-5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Palmoplantar keratoderma, Bothnian type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G176R (p.Gly176Arg) variant details
- p.Gly176Arg
- rs745563552
- ClinGen CA6559542
- ClinVar RCV001647329
- ExAC rs745563552
- Likely pathogenic
- Palmoplantar keratoderma, Bothnian type
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Palmoplantar keratoderma, Bothnian type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available