P204L (p.Pro204Leu) variant of MED13L (Q71F56)
P204L (p.Pro204Leu) 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 0.34 / 1. The record also includes population frequency data and structural context.
P204L (p.Pro204Leu) variant details
- p.Pro204Leu
- rs772556855
- ClinGen CA6811633
- ClinVar RCV003085060
- ExAC rs772556855
- Likely benign
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.30
- PolyPhen-2 0.06
- SIFT 0.27
- ClinVar: Likely benign (Dextro-looped transposition of the great arteries)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available