F5S (p.Phe5Ser) variant of CDKN2A (Tumor suppressor ARF)
F5S (p.Phe5Ser) 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 0.35 / 1. The record also includes published literature.
F5S (p.Phe5Ser) variant details
- p.Phe5Ser
- rs2131149044
- ClinGen CA373087111
- ClinVar RCV001944389
- Ensembl rs2131149044
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- AlphaMissense 0.42
- MetaLR 0.27
- MetaSVM -0.76
- SIFT 0.04
- 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)