I170V (p.Ile170Val) variant of PICALM (Q13492)
I170V (p.Ile170Val) 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.
I170V (p.Ile170Val) variant details
- p.Ile170Val
- gnomAD rs1470245732
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.15
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available