R10Q (p.Arg10Gln) variant of CDKN2A (Tumor suppressor ARF)
R10Q (p.Arg10Gln) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- rs2131148973
- ClinGen CA373087083
- cosmic curated COSV10652
- ClinVar RCV001776838
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.37
- MetaLR 0.77
- MetaSVM 0.15
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance