S180G (p.Ser180Gly) variant of MED13L (Q71F56)
S180G (p.Ser180Gly) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
S180G (p.Ser180Gly) variant details
- p.Ser180Gly
- ExAC rs747658099
- gnomAD rs747658099
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.83
- ESM-1b 0.43
- AlphaMissense 0.40
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available