A12T (p.Ala12Thr) variant of PCSK1 (Neuroendocrine convertase 1)
A12T (p.Ala12Thr) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- ExAC rs768156888
- gnomAD rs768156888
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.15
- MetaLR 0.20
- MetaSVM -0.84
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available