V31D (p.Val31Asp) variant of CSF1R (P07333)
V31D (p.Val31Asp) in CSF1R (P07333) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
V31D (p.Val31Asp) variant details
- p.Val31Asp
- rs1758516240
- ClinGen CA361737783
- ClinVar RCV001767213
- gnomAD rs1758516240
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 23.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)