L20V (p.Leu20Val) variant of NCSTN (Nicastrin)
L20V (p.Leu20Val) in NCSTN (Nicastrin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- rs1285710472
- NCI-TCGA Cosmic COSV5411
- TOPMed rs1285710472
- gnomAD rs1285710472
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 19.60
- PolyPhen-2 0.08
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available