I42F (p.Ile42Phe) variant of NCSTN (Nicastrin)
I42F (p.Ile42Phe) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I42F (p.Ile42Phe) variant details
- p.Ile42Phe
- gnomAD 1-160344760-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.36
- ESM-1b 0.64
- AlphaMissense 0.34
- CADD 24.30
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available