F62L (p.Phe62Leu) variant of VDR (Vitamin D3 receptor)
F62L (p.Phe62Leu) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
F62L (p.Phe62Leu) variant details
- p.Phe62Leu
- cosmic curated COSV99968
- ExAC rs758739784
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.73
- MetaLR 0.90
- MetaSVM 0.87
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available