Y21C (p.Tyr21Cys) variant of SLC4A1 (Band 3 anion transport protein)
Y21C (p.Tyr21Cys) in SLC4A1 (Band 3 anion transport protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Y21C (p.Tyr21Cys) variant details
- p.Tyr21Cys
- cosmic curated COSV52260
- TOPMed rs1220892947
- gnomAD rs1220892947
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.32
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available