N35I (p.Asn35Ile) variant of SETD5 (Q9C0A6)
N35I (p.Asn35Ile) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
N35I (p.Asn35Ile) variant details
- p.Asn35Ile
- rs180732045
- gnomAD 3-9429656-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 19.30
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available