P94L (p.Pro94Leu) variant of CDKN2A (Tumor suppressor ARF)
P94L (p.Pro94Leu) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome; Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P94L (p.Pro94Leu) variant details
- p.Pro94Leu
- rs121913388
- ClinGen CA120380
- NCI-TCGA Cosmic COSV5868
- cosmic curated COSV58682
- Pathogenic/Likely pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.15
- MetaLR 0.50
- MetaSVM 0.13
- SIFT 0.01
- EVE 0.48
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary cancer-predisposing syndrome; Familial)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A cell cycle regulator potentially involved in genesis of many tumor types. (PMID 8153634)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)