P53L (p.Pro53Leu) variant of CCND2 (G1/S-specific cyclin-D2)
P53L (p.Pro53Leu) in CCND2 (G1/S-specific cyclin-D2) is a missense change. Clinical records from ClinVar 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 0.49 / 1. The record also includes population frequency data and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- NCI-TCGA Cosmic COSV9971
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.37
- MetaLR 0.06
- MetaSVM -1.12
- CADD 28.60
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available