C43R (p.Cys43Arg) variant of MED13L (Q71F56)
C43R (p.Cys43Arg) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
C43R (p.Cys43Arg) variant details
- p.Cys43Arg
- ExAC rs768315802
- gnomAD rs768315802
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 24.90
- PolyPhen-2 0.83
- SIFT 0.21
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available