V7A (p.Val7Ala) variant of CDKN2A (Tumor suppressor ARF)
V7A (p.Val7Ala) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- rs771335991
- ClinGen CA5012401
- ClinVar RCV002046445
- ExAC rs771335991
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 26.90
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- 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)