A3P (p.Ala3Pro) variant of COL6A1 (Collagen alpha-1(VI) chain)
A3P (p.Ala3Pro) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A3P (p.Ala3Pro) variant details
- p.Ala3Pro
- gnomAD 21-45981857-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.13
- MetaLR 0.39
- MetaSVM -0.66
- CADD 12.00
- PolyPhen-2 0.09
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available