H4H (p.His4His) variant of COL5A1 (Collagen alpha-1(V) chain)
H4H (p.His4His) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
H4H (p.His4His) variant details
- p.His4His
- rs368818087
- gnomAD 9-134642199-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 14.50
- Most common in the HGDP:BURUSHO population (allele frequency 0.065)
- Structural context available
- Literature evidence available