S10A (p.Ser10Ala) variant of PTEN (P60484)
S10A (p.Ser10Ala) in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S10A (p.Ser10Ala) variant details
- p.Ser10Ala
- rs904599717
- gnomAD 10-87864013-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 14.80
- Most common in the African/African-American population (allele frequency 2.6e-05)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.574
- Literature evidence available