S59A (p.Ser59Ala) variant of COL3A1 (Collagen alpha-1(III) chain)
S59A (p.Ser59Ala) in COL3A1 (Collagen alpha-1(III) 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 0.20 / 1. The record also includes population frequency data and structural context.
S59A (p.Ser59Ala) variant details
- p.Ser59Ala
- rs1553506856
- ClinGen CA349847102
- ClinVar RCV000499758
- Ensembl rs1553506856
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.11
- MetaLR 0.17
- MetaSVM -0.89
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available