P16L (p.Pro16Leu) variant of ARID1A (O14497)
P16L (p.Pro16Leu) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- TOPMed rs2080253801
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.09
- MetaLR 0.00
- MetaSVM -0.62
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the East Asian population (allele frequency 4.2e-05)
- Structural context available