A3S (p.Ala3Ser) variant of PTEN (P60484)
A3S (p.Ala3Ser) in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 10-87863968-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 16.80
- Population evidence available
- Structural context available
- PTEN VAMP-seq Fill-in: score 1.01
- Literature evidence available