T31M (p.Thr31Met) variant of ERCC2 (P18074)
T31M (p.Thr31Met) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
T31M (p.Thr31Met) variant details
- p.Thr31Met
- rs374798062
- ClinGen CA9513936
- ClinVar RCV002503254
- ClinVar RCV003238717
- Uncertain significance
- not provided; Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.76
- CADD 31.00
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cerebrooculofacioskeletal syndrome 2; Xeroderma pi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)