D136V (p.Asp136Val) variant of MED13L (Q71F56)
D136V (p.Asp136Val) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D136V (p.Asp136Val) variant details
- p.Asp136Val
- ExAC rs767327697
- gnomAD rs767327697
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.55
- CADD 31.00
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available