H3Q (p.His3Gln) variant of CCND1 (G1/S-specific cyclin-D1)
H3Q (p.His3Gln) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H3Q (p.His3Gln) variant details
- p.His3Gln
- gnomAD 11-69641322-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -1.02
- CADD 20.50
- PolyPhen-2 0.03
- SIFT 0.53
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available