P19L (p.Pro19Leu) variant of ARID1A (O14497)
P19L (p.Pro19Leu) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- Ensembl rs2124739935
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.07
- MetaLR 0.00
- MetaSVM -0.45
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available