R11Q (p.Arg11Gln) variant of PTEN (P60484)
R11Q (p.Arg11Gln) in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- rs546504608
- gnomAD 10-87863957-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- ESM-1b 0.00
- AlphaMissense 0.80
- CADD 20.50
- Most common in the 1KG:CDX population (allele frequency 0.011)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.791
- Literature evidence available