I62V (p.Ile62Val) variant of SETD5 (Q9C0A6)
I62V (p.Ile62Val) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I62V (p.Ile62Val) variant details
- p.Ile62Val
- gnomAD 3-9430027-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 21.50
- Most common in the South Asian population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available