S62R (p.Ser62Arg) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S62R (p.Ser62Arg) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
S62R (p.Ser62Arg) variant details
- p.Ser62Arg
- 1000Genomes rs149685665
- ExAC rs149685665
- TOPMed rs149685665
- gnomAD rs149685665
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 23.30
- PolyPhen-2 0.69
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)