A49V (p.Ala49Val) variant of MED13L (Q71F56)
A49V (p.Ala49Val) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- gnomAD rs1305288927
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.44
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available