K29R (p.Lys29Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
K29R (p.Lys29Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- rs999240932
- ClinGen CA350846310
- ClinVar RCV002223018
- TOPMed rs999240932
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.31
- CADD 24.30
- PolyPhen-2 0.21
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available