P17S (p.Pro17Ser) variant of PMS2 (P54278)
P17S (p.Pro17Ser) in PMS2 (P54278) 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 0.56 / 1. The record also includes population frequency data and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- 1000Genomes rs552819358
- ExAC rs552819358
- gnomAD rs552819358
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.53
- AlphaMissense 0.20
- MetaLR 0.71
- MetaSVM 0.33
- CADD 22.80
- PolyPhen-2 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available