N141S (p.Asn141Ser) variant of GBA1 (P04062)
N141S (p.Asn141Ser) in GBA1 (P04062) 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.
N141S (p.Asn141Ser) variant details
- p.Asn141Ser
- ESP rs374003673
- ExAC rs374003673
- gnomAD rs374003673
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.38
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available