P23T (p.Pro23Thr) variant of COL6A1 (Collagen alpha-1(VI) chain)
P23T (p.Pro23Thr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
P23T (p.Pro23Thr) variant details
- p.Pro23Thr
- ExAC rs770178435
- gnomAD rs770178435
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.10
- CADD 6.01
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 9e-07)