A14P (p.Ala14Pro) variant of COL6A1 (Collagen alpha-1(VI) chain)
A14P (p.Ala14Pro) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- gnomAD 21-45981890-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.56
- MetaLR 0.55
- MetaSVM -0.30
- CADD 24.30
- PolyPhen-2 0.76
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available