D115A (p.Asp115Ala) variant of PCSK1 (Neuroendocrine convertase 1)
D115A (p.Asp115Ala) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D115A (p.Asp115Ala) variant details
- p.Asp115Ala
- 1000Genomes rs200893367
- ExAC rs200893367
- gnomAD rs200893367
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.21
- MetaLR 0.24
- MetaSVM -0.83
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available