L32R (p.Leu32Arg) variant of CCND1 (G1/S-specific cyclin-D1)
L32R (p.Leu32Arg) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L32R (p.Leu32Arg) variant details
- p.Leu32Arg
- gnomAD 11-69641408-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.36
- MetaLR 0.09
- MetaSVM -1.10
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available