A48T (p.Ala48Thr) variant of NCSTN (Nicastrin)
A48T (p.Ala48Thr) in NCSTN (Nicastrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- rs775651944
- NCI-TCGA Cosmic COSV9961
- ExAC rs775651944
- TOPMed rs775651944
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 24.00
- PolyPhen-2 0.45
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available