Q201E (p.Gln201Glu) variant of MED13L (Q71F56)
Q201E (p.Gln201Glu) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiac anomalies - developmental delay - facial dysmorphism syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q201E (p.Gln201Glu) variant details
- p.Gln201Glu
- rs1029377279
- ClinGen CA386872161
- ClinVar RCV003390311
- ClinVar RCV004364507
- Uncertain significance
- not provided; Cardiac anomalies - developmental delay - facial dysmorphism syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiac anomalies - developmental delay - facial d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)