P23A (p.Pro23Ala) variant of TMEM43 (Transmembrane protein 43)
P23A (p.Pro23Ala) in TMEM43 (Transmembrane protein 43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- rs1300909566
- gnomAD 3-14129463-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 26.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available