P23S (p.Pro23Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
P23S (p.Pro23Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and published literature.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- gnomAD 21-45981917-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.11
- MetaLR 0.34
- MetaSVM -0.80
- CADD 6.06
- PolyPhen-2 0.01
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available