M199T (p.Met199Thr) variant of MED13L (Q71F56)
M199T (p.Met199Thr) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M199T (p.Met199Thr) variant details
- p.Met199Thr
- TOPMed rs1448973263
- gnomAD rs1448973263
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available