R11W (p.Arg11Trp) variant of PTEN (P60484)
R11W (p.Arg11Trp) in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R11W (p.Arg11Trp) variant details
- p.Arg11Trp
- rs528340982
- gnomAD 10-87863956-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 20.30
- Most common in the Non-Finnish European population (allele frequency 6.9e-06)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.791
- Literature evidence available