I171V (p.Ile171Val) variant of PICALM (Q13492)
I171V (p.Ile171Val) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I171V (p.Ile171Val) variant details
- p.Ile171Val
- ExAC rs751759837
- gnomAD rs751759837
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.13
- CADD 22.40
- PolyPhen-2 0.31
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available