V211I (p.Val211Ile) variant of MED13L (Q71F56)
V211I (p.Val211Ile) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V211I (p.Val211Ile) variant details
- p.Val211Ile
- TOPMed rs1345974378
- gnomAD rs1345974378
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available