P16T (p.Pro16Thr) variant of ARID1A (O14497)
P16T (p.Pro16Thr) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P16T (p.Pro16Thr) variant details
- p.Pro16Thr
- TOPMed rs1349772934
- gnomAD rs1349772934
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.65
- CADD 16.90
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available