M30V (p.Met30Val) variant of PIK3CA (P42336)
M30V (p.Met30Val) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
M30V (p.Met30Val) variant details
- p.Met30Val
- gnomAD rs1289478729
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.41
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available