N58S (p.Asn58Ser) variant of GBA1 (P04062)
N58S (p.Asn58Ser) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
N58S (p.Asn58Ser) variant details
- p.Asn58Ser
- ExAC rs747971975
- gnomAD rs747971975
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.64
- CADD 23.20
- PolyPhen-2 0.51
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available