I42I (p.Ile42Ile) variant of NCSTN (Nicastrin)
I42I (p.Ile42Ile) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I42I (p.Ile42Ile) variant details
- p.Ile42Ile
- gnomAD 1-160344762-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 9.69
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Literature evidence available