S6V (p.Ser6Val) variant of GNAT1 (P11488)
S6V (p.Ser6Val) in GNAT1 (P11488) 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.
S6V (p.Ser6Val) variant details
- p.Ser6Val
- gnomAD 3-50191738-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 25.70
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available