H51Q (p.His51Gln) variant of SLC4A1 (Band 3 anion transport protein)
H51Q (p.His51Gln) 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 0.10 / 1. The record also includes population frequency data and structural context.
H51Q (p.His51Gln) variant details
- p.His51Gln
- NCI-TCGA Cosmic COSV5226
- cosmic curated COSV52261
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.12
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.84
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available