P43L (p.Pro43Leu) variant of NCSTN (Nicastrin)
P43L (p.Pro43Leu) in NCSTN (Nicastrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- rs762493645
- ClinGen CA1198609
- ClinVar RCV003728175
- ExAC rs762493645
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.29
- ESM-1b 0.25
- AlphaMissense 0.14
- CADD 22.20
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available