K37N (p.Lys37Asn) variant of SETD5 (Q9C0A6)
K37N (p.Lys37Asn) 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.
K37N (p.Lys37Asn) variant details
- p.Lys37Asn
- gnomAD 3-9429979-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 19.20
- Population evidence available
- Structural context available
- Literature evidence available