M199V (p.Met199Val) variant of MED13L (Q71F56)
M199V (p.Met199Val) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
M199V (p.Met199Val) variant details
- p.Met199Val
- gnomAD rs1346717465
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available