M98V (p.Met98Val) variant of XPA (P23025)
M98V (p.Met98Val) in XPA (P23025) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Ovarian cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
M98V (p.Met98Val) variant details
- p.Met98Val
- rs1339290732
- ClinGen CA374187903
- ClinVar RCV003154666
- ClinVar RCV003164878
- Conflicting interpretations
- Inborn genetic diseases; Ovarian cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.20
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Ovarian cancer)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- 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)