H196Y (p.His196Tyr) variant of MED13L (Q71F56)
H196Y (p.His196Tyr) 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.
H196Y (p.His196Tyr) variant details
- p.His196Tyr
- gnomAD rs1880119221
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.83
- ESM-1b 0.00
- AlphaMissense 0.42
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available