P34L (p.Pro34Leu) variant of SLC4A1 (Band 3 anion transport protein)
P34L (p.Pro34Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs56312419
- 1000Genomes rs56312419
- ESP rs56312419
- ExAC rs56312419
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.10
- CADD 13.70
- PolyPhen-2 0.06
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available