Q30H (p.Gln30His) variant of SLC4A1 (Band 3 anion transport protein)
Q30H (p.Gln30His) 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 0.12 / 1. The record also includes population frequency data and structural context.
Q30H (p.Gln30His) variant details
- p.Gln30His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.13
- CADD 2.06
- PolyPhen-2 0.00
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available