P49L (p.Pro49Leu) variant of NCSTN (Nicastrin)
P49L (p.Pro49Leu) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- rs773684044
- gnomAD 1-160343764-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.01
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 7.70
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available