V97I (p.Val97Ile) variant of MED13L (Q71F56)
V97I (p.Val97Ile) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V97I (p.Val97Ile) variant details
- p.Val97Ile
- ExAC rs773879689
- gnomAD rs773879689
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 23.30
- PolyPhen-2 0.68
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available