I5M (p.Ile5Met) variant of PTEN (P60484)
I5M (p.Ile5Met) in PTEN (P60484) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I5M (p.Ile5Met) variant details
- p.Ile5Met
- Ensembl rs2132145458
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.37
- MetaLR 0.77
- MetaSVM 0.40
- CADD 23.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PTEN VAMP-seq Fill-in: score -0.198