A50T (p.Ala50Thr) variant of SETD2 (Q9BYW2)
A50T (p.Ala50Thr) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Luscan-Lumish syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- rs191985301
- ClinGen CA73812492
- ClinVar RCV000652628
- ClinVar RCV004533419
- Conflicting interpretations
- Luscan-Lumish syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.28
- CADD 24.50
- PolyPhen-2 0.81
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Luscan-Lumish syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)