M45V (p.Met45Val) variant of SETD2 (Q9BYW2)
M45V (p.Met45Val) 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 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M45V (p.Met45Val) variant details
- p.Met45Val
- rs568718208
- ClinGen CA2363763
- ClinVar RCV002942320
- 1000Genomes rs568718208
- Uncertain significance
- Luscan-Lumish syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.09
- MetaLR 0.35
- MetaSVM -0.68
- PolyPhen-2 0.00
- SIFT 0.13
- EVE 0.19
- ClinVar: Uncertain significance (Luscan-Lumish syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SETD2 WW domain domainome 1.0: score 0.0494
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)