A166T (p.Ala166Thr) variant of MED13L (Q71F56)
A166T (p.Ala166Thr) 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.
A166T (p.Ala166Thr) variant details
- p.Ala166Thr
- TOPMed rs978898508
- gnomAD rs978898508
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 24.10
- PolyPhen-2 0.27
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available