S50R (p.Ser50Arg) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S50R (p.Ser50Arg) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
S50R (p.Ser50Arg) variant details
- p.Ser50Arg
- 1000Genomes rs574075967
- ExAC rs574075967
- TOPMed rs574075967
- gnomAD rs574075967
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 19.80
- PolyPhen-2 0.30
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)