S19C (p.Ser19Cys) variant of MED13L (Q71F56)
S19C (p.Ser19Cys) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S19C (p.Ser19Cys) variant details
- p.Ser19Cys
- gnomAD rs1358035684
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 22.40
- PolyPhen-2 0.51
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available