Q10R (p.Gln10Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
Q10R (p.Gln10Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
Q10R (p.Gln10Arg) variant details
- p.Gln10Arg
- rs769170197
- ClinGen CA2145888
- ClinVar RCV003673887
- ExAC rs769170197
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.12
- CADD 4.25
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available