N35K (p.Asn35Lys) variant of SETD5 (Q9C0A6)
N35K (p.Asn35Lys) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
N35K (p.Asn35Lys) variant details
- p.Asn35Lys
- rs2039742484
- gnomAD 3-9429660-CAATG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 18.20
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available