S13R (p.Ser13Arg) variant of MED13L (Q71F56)
S13R (p.Ser13Arg) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S13R (p.Ser13Arg) variant details
- p.Ser13Arg
- TOPMed rs1873931395
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 1.00
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available