K33Q (p.Lys33Gln) variant of CCND1 (G1/S-specific cyclin-D1)
K33Q (p.Lys33Gln) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
K33Q (p.Lys33Gln) variant details
- p.Lys33Gln
- gnomAD 11-69641410-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.46
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available