F53I (p.Phe53Ile) variant of HMGCR (P04035)
F53I (p.Phe53Ile) in HMGCR (P04035) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
F53I (p.Phe53Ile) variant details
- p.Phe53Ile
- gnomAD 5-75342762-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.19
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available