D22N (p.Asp22Asn) variant of PTEN (P60484)
D22N (p.Asp22Asn) in PTEN (P60484) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes experimental measurements and structural context.
D22N (p.Asp22Asn) variant details
- p.Asp22Asn
- Ensembl rs876660420
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- ESM-1b 0.02
- AlphaMissense 0.86
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- PTEN VAMP-seq Combined: score 0.901