H72Y (p.His72Tyr) variant of PCSK1 (Neuroendocrine convertase 1)
H72Y (p.His72Tyr) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H72Y (p.His72Tyr) variant details
- p.His72Tyr
- gnomAD rs1206696074
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.20
- MetaLR 0.13
- MetaSVM -0.88
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available