V43A (p.Val43Ala) variant of CDKN2A (Tumor suppressor ARF)
V43A (p.Val43Ala) 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 0.36 / 1. The record also includes published literature.
V43A (p.Val43Ala) variant details
- p.Val43Ala
- rs2131148286
- ClinGen CA373086891
- ClinVar RCV001959463
- Ensembl rs2131148286
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.13
- MetaLR 0.19
- MetaSVM -0.98
- SIFT 0.66
- EVE 0.13
- 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)