F31S (p.Phe31Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
F31S (p.Phe31Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
F31S (p.Phe31Ser) variant details
- p.Phe31Ser
- TOPMed rs1255649743
- gnomAD rs1255649743
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.47
- CADD 23.50
- PolyPhen-2 0.37
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available