P49R (p.Pro49Arg) variant of NCSTN (Nicastrin)
P49R (p.Pro49Arg) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P49R (p.Pro49Arg) variant details
- p.Pro49Arg
- rs773684044
- gnomAD 1-160343764-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.02
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 7.29
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available