H198R (p.His198Arg) variant of MED13L (Q71F56)
H198R (p.His198Arg) in MED13L (Q71F56) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H198R (p.His198Arg) variant details
- p.His198Arg
- ExAC rs764593997
- gnomAD rs764593997
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.87
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available