G52V (p.Gly52Val) variant of CSF1R (P07333)
G52V (p.Gly52Val) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
G52V (p.Gly52Val) variant details
- p.Gly52Val
- ESP rs144261133
- ExAC rs144261133
- TOPMed rs144261133
- gnomAD rs144261133
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 14.20
- PolyPhen-2 0.61
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 2.4e-05)