P22R (p.Pro22Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
P22R (p.Pro22Arg) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ehlers-Danlos syndrome, classic type, 1; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P22R (p.Pro22Arg) variant details
- p.Pro22Arg
- rs863223467
- ClinGen CA323910
- ClinVar RCV000199376
- ClinVar RCV002228856
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.31
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; not specified; not prov)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00053)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)