V25I (p.Val25Ile) variant of CDKN2A (Tumor suppressor ARF)
V25I (p.Val25Ile) in CDKN2A (Tumor suppressor ARF) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data.
V25I (p.Val25Ile) variant details
- p.Val25Ile
- Ensembl rs2131148720
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.16
- CADD 16.70
- PolyPhen-2 0.03
- SIFT 0.24
- ClinVar: Uncertain significance (Familial melanoma)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)