M1T (p.Met1Thr) variant of XPC (Q01831)
M1T (p.Met1Thr) in XPC (Q01831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs760324503
- ClinGen CA69769174
- ClinVar RCV001242944
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- MetaLR 0.16
- MetaSVM -0.80
- PolyPhen-2 0.56
- SIFT 0.00
- MutPred 0.91
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available