A6S (p.Ala6Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
A6S (p.Ala6Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- rs770024296
- ClinGen CA2145884
- ClinVar RCV002266224
- ClinVar RCV003227066
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.21
- CADD 5.51
- PolyPhen-2 0.12
- SIFT 0.73
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00047)
- Structural context available