S6P (p.Ser6Pro) variant of ASS1 (Argininosuccinate synthase)
S6P (p.Ser6Pro) in ASS1 (Argininosuccinate synthase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S6P (p.Ser6Pro) variant details
- p.Ser6Pro
- ExAC rs757913342
- TOPMed rs757913342
- gnomAD rs757913342
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.50
- CADD 23.80
- PolyPhen-2 0.03
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available