V50M (p.Val50Met) variant of PADI4 (Q9UM07)
V50M (p.Val50Met) 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 0.26 / 1. The record also includes population frequency data and structural context.
V50M (p.Val50Met) variant details
- p.Val50Met
- rs757370203
- ClinGen CA640360
- cosmic curated COSV10096
- ClinVar RCV004252260
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.18
- CADD 19.60
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00027)
- Structural context available