R11P (p.Arg11Pro) variant of PTEN (P60484)
R11P (p.Arg11Pro) in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R11P (p.Arg11Pro) variant details
- p.Arg11Pro
- rs546504608
- gnomAD 10-87863957-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 20.20
- Most common in the HGDP:BEDOUIN population (allele frequency 0.024)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.791
- Literature evidence available