P9L (p.Pro9Leu) variant of SETD2 (Q9BYW2)
P9L (p.Pro9Leu) 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.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs1553707534
- ClinGen CA352512636
- ClinVar RCV000533340
- Ensembl rs1553707534
- Uncertain significance
- Luscan-Lumish syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.30
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Luscan-Lumish syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.362
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)