A19T (p.Ala19Thr) variant of COL6A1 (Collagen alpha-1(VI) chain)
A19T (p.Ala19Thr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD 21-45981905-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.10
- MetaLR 0.38
- MetaSVM -0.73
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available