A17S (p.Ala17Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
A17S (p.Ala17Ser) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- rs890143450
- ClinGen CA201068633
- ClinVar RCV003071277
- TOPMed rs890143450
- Benign
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.21
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Benign (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)