M30I (p.Met30Ile) variant of PIK3CA (P42336)
M30I (p.Met30Ile) in PIK3CA (P42336) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M30I (p.Met30Ile) variant details
- p.Met30Ile
- ESP rs372968114
- ExAC rs372968114
- TOPMed rs372968114
- gnomAD rs372968114
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.35
- MetaLR 0.07
- MetaSVM -0.88
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available