S13I (p.Ser13Ile) variant of MED13L (Q71F56)
S13I (p.Ser13Ile) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S13I (p.Ser13Ile) variant details
- p.Ser13Ile
- Ensembl rs2138616939
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 20.80
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available