P45S (p.Pro45Ser) variant of GBA1 (P04062)
P45S (p.Pro45Ser) in GBA1 (P04062) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P45S (p.Pro45Ser) variant details
- p.Pro45Ser
- rs765693058
- cosmic curated COSV10589
- ExAC rs765693058
- gnomAD rs765693058
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.33
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available