Y214C (p.Tyr214Cys) variant of MED13L (Q71F56)
Y214C (p.Tyr214Cys) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y214C (p.Tyr214Cys) variant details
- p.Tyr214Cys
- rs779946861
- ClinGen CA6811605
- ClinVar RCV002995850
- ExAC rs779946861
- Likely benign
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.86
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely benign (Dextro-looped transposition of the great arteries)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00075)
- Structural context available