A6V (p.Ala6Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
A6V (p.Ala6Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- TOPMed rs1317800639
- gnomAD rs1317800639
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.14
- CADD 9.43
- PolyPhen-2 0.00
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available