R97H (p.Arg97His) variant of COL4A4 (Collagen alpha-4(IV) chain)
R97H (p.Arg97His) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R97H (p.Arg97His) variant details
- p.Arg97His
- rs769110804
- NCI-TCGA Cosmic COSV6163
- ExAC rs769110804
- TOPMed rs769110804
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.17
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available