P50L (p.Pro50Leu) variant of MED13L (Q71F56)
P50L (p.Pro50Leu) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- gnomAD rs1391248881
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.57
- CADD 24.90
- PolyPhen-2 0.45
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available