T44A (p.Thr44Ala) variant of COL6A1 (Collagen alpha-1(VI) chain)
T44A (p.Thr44Ala) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T44A (p.Thr44Ala) variant details
- p.Thr44Ala
- gnomAD rs1296919343
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.78
- CADD 29.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available