P29L (p.Pro29Leu) variant of SMARCA2 (P51531)
P29L (p.Pro29Leu) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- gnomAD rs1412585591
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.57
- AlphaMissense 0.73
- MetaLR 0.79
- MetaSVM 0.68
- CADD 24.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available