H172R (p.His172Arg) variant of MED13L (Q71F56)
H172R (p.His172Arg) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
H172R (p.His172Arg) variant details
- p.His172Arg
- gnomAD rs1175373974
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available