F20A (p.Phe20Ala) variant of SLC12A3 (P55017)
F20A (p.Phe20Ala) in SLC12A3 (P55017) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F20A (p.Phe20Ala) variant details
- p.Phe20Ala
- rs758683818
- gnomAD 16-56865288-G-GGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 25.10
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available