S42C (p.Ser42Cys) variant of CCND2 (G1/S-specific cyclin-D2)
S42C (p.Ser42Cys) in CCND2 (G1/S-specific cyclin-D2) is a missense change. 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.
S42C (p.Ser42Cys) variant details
- p.Ser42Cys
- gnomAD rs1401047935
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.36
- MetaLR 0.08
- MetaSVM -1.02
- CADD 29.00
- PolyPhen-2 0.89
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available