V77M (p.Val77Met) variant of ERCC2 (P18074)
V77M (p.Val77Met) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Xeroderma pigmentosum, group D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V77M (p.Val77Met) variant details
- p.Val77Met
- rs866646197
- ClinGen CA308974064
- ClinVar RCV001136192
- ClinVar RCV002429773
- Uncertain significance
- Inborn genetic diseases; Xeroderma pigmentosum, group D
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.40
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases; Xeroderma pigmentosum, group D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)