L120F (p.Leu120Phe) variant of SLC4A1 (Band 3 anion transport protein)
L120F (p.Leu120Phe) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L120F (p.Leu120Phe) variant details
- p.Leu120Phe
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99292
- gnomAD rs2047433937
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.58
- CADD 25.70
- PolyPhen-2 0.67
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available