L44F (p.Leu44Phe) variant of NCSTN (Nicastrin)
L44F (p.Leu44Phe) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L44F (p.Leu44Phe) variant details
- p.Leu44Phe
- gnomAD 1-160343733-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.03
- CADD 5.21
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available