Q21S (p.Gln21Ser) variant of PDE6B (P35913)
Q21S (p.Gln21Ser) in PDE6B (P35913) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q21S (p.Gln21Ser) variant details
- p.Gln21Ser
- gnomAD 4-625685-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.32
- CADD 22.10
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available