A725T (p.Ala725Thr) variant of ERCC2 (P18074)
A725T (p.Ala725Thr) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cerebrooculofacioskeletal syndrome 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
A725T (p.Ala725Thr) variant details
- p.Ala725Thr
- rs121913018
- ClinGen CA406360942
- NCI-TCGA Cosmic COSV6726
- cosmic curated COSV67269
- Likely pathogenic
- Cerebrooculofacioskeletal syndrome 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Cerebrooculofacioskeletal syndrome 2; not provided)
- EBI: Pathogenic (in TTD1)
- UniProt: Pathogenic (in TTD1)
- Structural context available