P6S (p.Pro6Ser) variant of SMARCA4 (P51532)
P6S (p.Pro6Ser) in SMARCA4 (P51532) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- Ensembl rs2145720388
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.49
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available