P18S (p.Pro18Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
P18S (p.Pro18Ser) 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 not provided; not specified; Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- rs1060502260
- ClinGen CA16612509
- ClinVar RCV000518865
- ClinVar RCV002230387
- Uncertain significance
- not provided; not specified; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.15
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (not provided; not specified; Ehlers-Danlos syndrome, classic typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)