I38V (p.Ile38Val) variant of ASS1 (Argininosuccinate synthase)
I38V (p.Ile38Val) in ASS1 (Argininosuccinate synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I38V (p.Ile38Val) variant details
- p.Ile38Val
- gnomAD rs1176198275
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.35
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available