R44S (p.Arg44Ser) variant of ATP6V1A (P38606)
R44S (p.Arg44Ser) in ATP6V1A (P38606) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R44S (p.Arg44Ser) variant details
- p.Arg44Ser
- gnomAD 3-113781095-TGA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.67
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available