P26Q (p.Pro26Gln) variant of COL6A1 (Collagen alpha-1(VI) chain)
P26Q (p.Pro26Gln) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P26Q (p.Pro26Gln) variant details
- p.Pro26Gln
- gnomAD 21-45981927-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.15
- MetaLR 0.38
- MetaSVM -0.67
- CADD 8.30
- PolyPhen-2 0.02
- SIFT 0.63
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available