L30M (p.Leu30Met) variant of CCND2 (G1/S-specific cyclin-D2)
L30M (p.Leu30Met) in CCND2 (G1/S-specific cyclin-D2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L30M (p.Leu30Met) variant details
- p.Leu30Met
- rs778986120
- ClinGen CA6395150
- ClinVar RCV002934417
- ExAC rs778986120
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.23
- MetaLR 0.04
- MetaSVM -1.16
- CADD 17.00
- PolyPhen-2 0.85
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)