L17V (p.Leu17Val) variant of NCSTN (Nicastrin)
L17V (p.Leu17Val) 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 0.17 / 1. The record also includes population frequency data and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- rs200632380
- ClinGen CA1198548
- ClinVar RCV001953359
- ExAC rs200632380
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available