P61L (p.Pro61Leu) variant of CDKN2A (Tumor suppressor ARF)
P61L (p.Pro61Leu) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature.
P61L (p.Pro61Leu) variant details
- p.Pro61Leu
- rs1820526529
- ClinGen CA373086782
- ClinVar RCV001365500
- Ensembl rs1820526529
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.17
- MetaLR 0.27
- MetaSVM -0.51
- SIFT 0.02
- EVE 0.60
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)