S137A (p.Ser137Ala) variant of PICALM (Q13492)
S137A (p.Ser137Ala) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S137A (p.Ser137Ala) variant details
- p.Ser137Ala
- 1000Genomes rs531548903
- ExAC rs531548903
- TOPMed rs531548903
- gnomAD rs531548903
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.32
- CADD 23.10
- PolyPhen-2 0.27
- SIFT 0.07
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available