L12H (p.Leu12His) variant of COL3A1 (Collagen alpha-1(III) chain)
L12H (p.Leu12His) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L12H (p.Leu12His) variant details
- p.Leu12His
- gnomAD 2-188974524-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.61
- MetaLR 0.66
- MetaSVM 0.30
- CADD 27.50
- PolyPhen-2 0.64
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available