S54T (p.Ser54Thr) variant of COL6A2 (Collagen alpha-2(VI) chain)
S54T (p.Ser54Thr) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
S54T (p.Ser54Thr) variant details
- p.Ser54Thr
- gnomAD rs1401179936
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.94
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available