H100R (p.His100Arg) variant of MED13L (Q71F56)
H100R (p.His100Arg) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H100R (p.His100Arg) variant details
- p.His100Arg
- ExAC rs777820829
- gnomAD rs777820829
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available