R14K (p.Arg14Lys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R14K (p.Arg14Lys) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R14K (p.Arg14Lys) variant details
- p.Arg14Lys
- gnomAD 11-6390639-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.02
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available