N38K (p.Asn38Lys) variant of COL17A1 (Collagen alpha-1(XVII) chain)
N38K (p.Asn38Lys) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
N38K (p.Asn38Lys) variant details
- p.Asn38Lys
- ExAC rs774708773
- TOPMed rs774708773
- gnomAD rs774708773
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 23.40
- PolyPhen-2 0.87
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)