N186K (p.Asn186Lys) variant of PICALM (Q13492)
N186K (p.Asn186Lys) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N186K (p.Asn186Lys) variant details
- p.Asn186Lys
- ExAC rs745676394
- gnomAD rs745676394
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.19
- CADD 22.00
- PolyPhen-2 0.25
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available