P9S (p.Pro9Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
P9S (p.Pro9Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.17
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available