K29M (p.Lys29Met) variant of COL4A3 (Collagen alpha-3(IV) chain)
K29M (p.Lys29Met) 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 Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
K29M (p.Lys29Met) variant details
- p.Lys29Met
- rs999240932
- ClinGen CA66565557
- ClinVar RCV001814696
- TOPMed rs999240932
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.53
- CADD 33.00
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available