V568L (p.Val568Leu) variant of SMARCA4 (P51532)
V568L (p.Val568Leu) 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 0.55 / 1. The record also includes structural context.
V568L (p.Val568Leu) variant details
- p.Val568Leu
- rs1431755388
- ClinGen CA404064456
- ClinVar RCV001533125
- gnomAD rs1431755388
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.99
- MetaLR 0.52
- MetaSVM 0.11
- PolyPhen-2 0.96
- SIFT 0.06
- EVE 0.53
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available