I32V (p.Ile32Val) variant of SETD2 (Q9BYW2)
I32V (p.Ile32Val) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Luscan-Lumish syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- rs1170321784
- ClinGen CA352538620
- ClinVar RCV000702395
- TOPMed rs1170321784
- Uncertain significance
- Luscan-Lumish syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.18
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Luscan-Lumish syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.215
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)