M135T (p.Met135Thr) variant of MED13L (Q71F56)
M135T (p.Met135Thr) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
M135T (p.Met135Thr) variant details
- p.Met135Thr
- rs752482619
- ClinGen CA6811681
- ClinVar RCV002273166
- ExAC rs752482619
- Uncertain significance
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.44
- CADD 25.90
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiac anomalies - developmental delay - facial dysmorphism syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)