H88R (p.His88Arg) variant of COL6A3 (Collagen alpha-3(VI) chain)
H88R (p.His88Arg) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H88R (p.His88Arg) variant details
- p.His88Arg
- ExAC rs763661502
- gnomAD rs763661502
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.27
- MetaLR 0.28
- MetaSVM -0.87
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available