R76S (p.Arg76Ser) variant of CDKN1C (P49918)
R76S (p.Arg76Ser) in CDKN1C (P49918) 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 0.75 / 1. The record also includes structural context.
R76S (p.Arg76Ser) variant details
- p.Arg76Ser
- rs750526402
- ClinVar RCV004590756
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.84
- MetaLR 0.74
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.62
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available