A6D (p.Ala6Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
A6D (p.Ala6Asp) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- rs1317800639
- ClinGen CA350845938
- ClinVar RCV003551427
- TOPMed rs1317800639
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.53
- CADD 10.60
- PolyPhen-2 0.19
- SIFT 0.26
- ClinVar: Uncertain significance (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