V18M (p.Val18Met) variant of PADI4 (Q9UM07)
V18M (p.Val18Met) in PADI4 (Q9UM07) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
V18M (p.Val18Met) variant details
- p.Val18Met
- rs371193672
- 1000Genomes rs371193672
- ESP rs371193672
- ExAC rs371193672
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.26
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available