I97T (p.Ile97Thr) variant of PCSK1 (Neuroendocrine convertase 1)
I97T (p.Ile97Thr) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I97T (p.Ile97Thr) variant details
- p.Ile97Thr
- cosmic curated COSV60737
- gnomAD rs1385225623
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -0.99
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available