P15S (p.Pro15Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
P15S (p.Pro15Ser) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 1; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- rs2491093792
- ClinGen CA375443845
- ClinVar RCV003068426
- ClinVar RCV005239628
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.23
- CADD 21.00
- PolyPhen-2 0.64
- SIFT 0.65
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)