M30L (p.Met30Leu) variant of PIK3CA (P42336)
M30L (p.Met30Leu) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
M30L (p.Met30Leu) variant details
- p.Met30Leu
- gnomAD rs1289478729
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.36
- MetaLR 0.15
- MetaSVM -0.92
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available