P18S (p.Pro18Ser) variant of SMARCA4 (P51532)
P18S (p.Pro18Ser) in SMARCA4 (P51532) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- cosmic curated COSV60803
- gnomAD rs2085806713
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.54
- CADD 24.30
- PolyPhen-2 0.97
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available