G89V (p.Gly89Val) variant of SLC4A1 (Band 3 anion transport protein)
G89V (p.Gly89Val) 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 0.56 / 1. The record also includes population frequency data and structural context.
G89V (p.Gly89Val) variant details
- p.Gly89Val
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99292
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.43
- CADD 22.30
- PolyPhen-2 0.37
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available