P24L (p.Pro24Leu) variant of SMARCA4 (P51532)
P24L (p.Pro24Leu) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- ExAC rs772230026
- gnomAD rs772230026
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.52
- AlphaMissense 0.45
- MetaLR 0.72
- MetaSVM 0.52
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available