P35L (p.Pro35Leu) variant of SMARCA2 (P51531)
P35L (p.Pro35Leu) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs749279138
- ClinGen CA4962754
- ClinVar RCV003546416
- ClinVar RCV006262835
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.33
- AlphaMissense 0.12
- MetaLR 0.45
- MetaSVM -0.37
- CADD 23.20
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available