P10L (p.Pro10Leu) variant of SETD2 (Q9BYW2)
P10L (p.Pro10Leu) 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 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- rs773221585
- ClinGen CA2363803
- ClinVar RCV001043681
- ExAC rs773221585
- Conflicting interpretations
- Luscan-Lumish syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.26
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Luscan-Lumish syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00024)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.249
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)