H99R (p.His99Arg) variant of MED13L (Q71F56)
H99R (p.His99Arg) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
H99R (p.His99Arg) variant details
- p.His99Arg
- ExAC rs770784992
- gnomAD rs770784992
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.72
- ESM-1b 0.00
- AlphaMissense 0.74
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available