P19A (p.Pro19Ala) variant of ARID1A (O14497)
P19A (p.Pro19Ala) in ARID1A (O14497) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
P19A (p.Pro19Ala) variant details
- p.Pro19Ala
- rs2080253926
- ClinGen CA339264291
- ClinVar RCV001090915
- Ensembl rs2080253926
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- AlphaMissense 0.10
- MetaLR 0.00
- MetaSVM -0.75
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available