A27T (p.Ala27Thr) variant of PCSK1 (Neuroendocrine convertase 1)
A27T (p.Ala27Thr) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- Ensembl rs2112455501
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.07
- MetaLR 0.17
- MetaSVM -0.91
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available