S6P (p.Ser6Pro) variant of PIK3CA (P42336)
S6P (p.Ser6Pro) in PIK3CA (P42336) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S6P (p.Ser6Pro) variant details
- p.Ser6Pro
- TOPMed rs1724333023
- gnomAD rs1724333023
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.55
- MetaLR 0.44
- MetaSVM -0.23
- CADD 26.80
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available