S10F (p.Ser10Phe) variant of PTEN (P60484)
S10F (p.Ser10Phe) in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S10F (p.Ser10Phe) variant details
- p.Ser10Phe
- rs1178630827
- gnomAD 10-87864014-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 16.30
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.574
- Literature evidence available