C133S (p.Cys133Ser) variant of MED13L (Q71F56)
C133S (p.Cys133Ser) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
C133S (p.Cys133Ser) variant details
- p.Cys133Ser
- ExAC rs760692732
- gnomAD rs760692732
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.77
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available