R62H (p.Arg62His) variant of MED13L (Q71F56)
R62H (p.Arg62His) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R62H (p.Arg62His) variant details
- p.Arg62His
- ExAC rs756298038
- gnomAD rs756298038
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.81
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available