R125S (p.Arg125Ser) variant of PICALM (Q13492)
R125S (p.Arg125Ser) 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.
R125S (p.Arg125Ser) variant details
- p.Arg125Ser
- Ensembl rs200363412
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.46
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available