H4P (p.His4Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
H4P (p.His4Pro) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H4P (p.His4Pro) variant details
- p.His4Pro
- gnomAD 9-134642198-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.41
- MetaLR 0.61
- MetaSVM -0.36
- CADD 22.60
- PolyPhen-2 0.23
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available