Q21K (p.Gln21Lys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Q21K (p.Gln21Lys) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q21K (p.Gln21Lys) variant details
- p.Gln21Lys
- rs1413550764
- gnomAD 11-6390657-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 19.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available