D48V (p.Asp48Val) variant of NOD1 (Q9Y239)
D48V (p.Asp48Val) in NOD1 (Q9Y239) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D48V (p.Asp48Val) variant details
- p.Asp48Val
- ExAC rs766821538
- gnomAD rs766821538
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.20
- CADD 20.50
- PolyPhen-2 0.40
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available