D33N (p.Asp33Asn) variant of CDKN1A (P38936)
D33N (p.Asp33Asn) in CDKN1A (P38936) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- rs376481017
- NCI-TCGA Cosmic COSV5518
- cosmic curated COSV55188
- ESP rs376481017
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.73
- MetaLR 0.68
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.66
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available