H26Y (p.His26Tyr) variant of CDKN2A (Tumor suppressor ARF)
H26Y (p.His26Tyr) 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.
H26Y (p.His26Tyr) variant details
- p.His26Tyr
- rs1820533255
- ClinGen CA373086991
- cosmic curated COSV64253
- ClinVar RCV001225857
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.24
- MetaLR 0.21
- MetaSVM -0.84
- SIFT 0.05
- EVE 0.66
- 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)