Y13C (p.Tyr13Cys) variant of ETFDH (Q16134)
Y13C (p.Tyr13Cys) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Y13C (p.Tyr13Cys) variant details
- p.Tyr13Cys
- rs746966542
- ClinGen CA312519
- ClinVar RCV000185887
- ExAC rs746966542
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.23
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available