T97A (p.Thr97Ala) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T97A (p.Thr97Ala) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
T97A (p.Thr97Ala) variant details
- p.Thr97Ala
- rs139344319
- ClinGen CA5679500
- ClinVar RCV003909793
- ClinVar RCV005256942
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)