P19S (p.Pro19Ser) variant of ARID1A (O14497)
P19S (p.Pro19Ser) in ARID1A (O14497) 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 0.26 / 1. The record also includes population frequency data and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- Ensembl rs2080253926
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.07
- AlphaMissense 0.10
- MetaLR 0.00
- MetaSVM -0.75
- CADD 23.20
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.1e-06)
- Structural context available