S160G (p.Ser160Gly) variant of MED13L (Q71F56)
S160G (p.Ser160Gly) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac anomalies - developmental delay - facial dysmorphism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S160G (p.Ser160Gly) variant details
- p.Ser160Gly
- rs769061925
- ClinGen CA6811671
- ClinVar RCV003132635
- ExAC rs769061925
- Uncertain significance
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 27.10
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiac anomalies - developmental delay - facial dysmorphism syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)