S82T (p.Ser82Thr) variant of PCSK1 (Neuroendocrine convertase 1)
S82T (p.Ser82Thr) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S82T (p.Ser82Thr) variant details
- p.Ser82Thr
- gnomAD rs1319360811
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.15
- MetaLR 0.12
- MetaSVM -0.93
- CADD 21.80
- PolyPhen-2 0.34
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available