M1T (p.Met1Thr) variant of XPA (P23025)
M1T (p.Met1Thr) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Xeroderma pigmentosum group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1253496792
- ClinGen CA374188668
- ClinVar RCV000666994
- Likely pathogenic
- Xeroderma pigmentosum group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- MetaLR 0.12
- MetaSVM -0.89
- PolyPhen-2 0.90
- SIFT 0.00
- MutPred 0.96
- ClinVar: Likely pathogenic (Xeroderma pigmentosum group A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)