T77N (p.Thr77Asn) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T77N (p.Thr77Asn) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
T77N (p.Thr77Asn) variant details
- p.Thr77Asn
- ExAC rs773524594
- TOPMed rs773524594
- gnomAD rs773524594
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 22.20
- PolyPhen-2 0.25
- SIFT 0.07
- Most common in the 1KG:MSL population (allele frequency 0.013)