H198P (p.His198Pro) variant of MED13L (Q71F56)
H198P (p.His198Pro) 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 0.24 / 1. The record also includes structural context.
H198P (p.His198Pro) variant details
- p.His198Pro
- rs764593997
- ClinGen CA386872179
- ClinVar RCV001983739
- ExAC rs764593997
- Benign
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- ESM-1b 0.00
- AlphaMissense 0.38
- ClinVar: Benign (Dextro-looped transposition of the great arteries)
- EBI: Benign
- UniProt: Benign
- Structural context available