H88L (p.His88Leu) variant of COL6A3 (Collagen alpha-3(VI) chain)
H88L (p.His88Leu) in COL6A3 (Collagen alpha-3(VI) 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 and structural context.
H88L (p.His88Leu) variant details
- p.His88Leu
- ExAC rs763661502
- gnomAD rs763661502
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.55
- MetaLR 0.46
- MetaSVM -0.50
- CADD 22.40
- PolyPhen-2 0.29
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available