A35T (p.Ala35Thr) variant of CDKN2A (Tumor suppressor ARF)
A35T (p.Ala35Thr) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A35T (p.Ala35Thr) variant details
- p.Ala35Thr
- gnomAD rs1473253589
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.21
- MetaLR 0.26
- MetaSVM -0.78
- CADD 17.00
- SIFT 0.02
- EVE 0.69
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available