I149T (p.Ile149Thr) variant of PCSK1 (Neuroendocrine convertase 1)
I149T (p.Ile149Thr) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
I149T (p.Ile149Thr) variant details
- p.Ile149Thr
- ExAC rs772150249
- gnomAD rs772150249
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.35
- MetaLR 0.32
- MetaSVM -0.61
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available