A66V (p.Ala66Val) variant of MED13L (Q71F56)
A66V (p.Ala66Val) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
A66V (p.Ala66Val) variant details
- p.Ala66Val
- gnomAD rs1418227712
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.66
- ESM-1b 0.00
- AlphaMissense 0.37
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available