V39F (p.Val39Phe) variant of SETD5 (Q9C0A6)
V39F (p.Val39Phe) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V39F (p.Val39Phe) variant details
- p.Val39Phe
- gnomAD 3-9429938-AAGTCT-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 19.20
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available