P30R (p.Pro30Arg) variant of SMARCA4 (P51532)
P30R (p.Pro30Arg) 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; Rhabdoid tumor predisposition syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- Ensembl rs2145722893
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Rhabdoid tumor predisposition syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.70
- AlphaMissense 0.52
- MetaLR 0.74
- MetaSVM 0.61
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Rhabdoid tumor predispo)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available