A21E (p.Ala21Glu) variant of PCSK1 (Neuroendocrine convertase 1)
A21E (p.Ala21Glu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- Ensembl rs776377807
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.17
- MetaLR 0.19
- MetaSVM -0.90
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available