A117V (p.Ala117Val) variant of PCSK1 (Neuroendocrine convertase 1)
A117V (p.Ala117Val) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A117V (p.Ala117Val) variant details
- p.Ala117Val
- gnomAD rs1761290355
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.08
- MetaLR 0.23
- MetaSVM -0.82
- CADD 19.30
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available