R98C (p.Arg98Cys) variant of ETFB (P38117)
R98C (p.Arg98Cys) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; not provided. 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.
R98C (p.Arg98Cys) variant details
- p.Arg98Cys
- rs147353781
- ClinGen CA312494
- cosmic curated COSV58535
- ClinVar RCV000185874
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.26
- CADD 23.20
- PolyPhen-2 0.48
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.1)
- 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)