Y48H (p.Tyr48His) variant of COL5A2 (Collagen alpha-2(V) chain)
Y48H (p.Tyr48His) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Y48H (p.Tyr48His) variant details
- p.Tyr48His
- rs750126490
- ClinGen CA2023185
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV001936760
- Likely benign
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.49
- CADD 28.90
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Likely benign (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)