P17A (p.Pro17Ala) variant of PMS2 (P54278)
P17A (p.Pro17Ala) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P17A (p.Pro17Ala) variant details
- p.Pro17Ala
- rs552819358
- ClinGen CA366745155
- ClinVar RCV001321213
- 1000Genomes rs552819358
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 0.20
- MetaLR 0.71
- MetaSVM 0.33
- PolyPhen-2 0.14
- SIFT 0.04
- EVE 0.51
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available