V147I (p.Val147Ile) variant of MED13L (Q71F56)
V147I (p.Val147Ile) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V147I (p.Val147Ile) variant details
- p.Val147Ile
- Ensembl rs1872666832
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available