S14L (p.Ser14Leu) variant of NOD1 (Q9Y239)
S14L (p.Ser14Leu) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S14L (p.Ser14Leu) variant details
- p.Ser14Leu
- Ensembl rs1562697973
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.12
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available