L30Q (p.Leu30Gln) variant of CSF1R (P07333)
L30Q (p.Leu30Gln) in CSF1R (P07333) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
L30Q (p.Leu30Gln) variant details
- p.Leu30Gln
- gnomAD rs1758516355
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)