A195V (p.Ala195Val) variant of PICALM (Q13492)
A195V (p.Ala195Val) in PICALM (Q13492) 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 0.51 / 1. The record also includes population frequency data and structural context.
A195V (p.Ala195Val) variant details
- p.Ala195Val
- rs778042984
- ExAC rs778042984
- gnomAD rs778042984
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.28
- CADD 32.00
- PolyPhen-2 0.66
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available