Y103N (p.Tyr103Asn) variant of PCSK1 (Neuroendocrine convertase 1)
Y103N (p.Tyr103Asn) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Y103N (p.Tyr103Asn) variant details
- p.Tyr103Asn
- gnomAD rs1330986908
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.23
- MetaLR 0.08
- MetaSVM -1.11
- CADD 23.10
- PolyPhen-2 0.41
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available