V9D (p.Val9Asp) variant of PTEN (P60484)
V9D (p.Val9Asp) in PTEN (P60484) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V9D (p.Val9Asp) variant details
- p.Val9Asp
- Ensembl rs2132145566
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- CADD 31.00
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available
- PTEN VAMP-seq Fill-in: score 0.762