H40R (p.His40Arg) variant of MED13L (Q71F56)
H40R (p.His40Arg) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
H40R (p.His40Arg) variant details
- p.His40Arg
- rs2500017215
- ClinGen CA386927626
- ClinVar RCV003024057
- Benign
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- ClinVar: Benign (Dextro-looped transposition of the great arteries)
- EBI: Benign
- UniProt: Benign
- Structural context available