A5P (p.Ala5Pro) variant of MED13L (Q71F56)
A5P (p.Ala5Pro) 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.
A5P (p.Ala5Pro) variant details
- p.Ala5Pro
- TOPMed rs1028349166
- gnomAD rs1028349166
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.85
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available