P21S (p.Pro21Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
P21S (p.Pro21Ser) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal; Co. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- rs548525119
- ClinGen CA324269
- ClinVar RCV000199718
- ClinVar RCV000232945
- Benign/Likely benign
- Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal; Co
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.16
- CADD 9.54
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Benign/Likely benign (Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)