S41V (p.Ser41Val) variant of SETD5 (Q9C0A6)
S41V (p.Ser41Val) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S41V (p.Ser41Val) variant details
- p.Ser41Val
- rs1406609031
- gnomAD 3-9429882-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available