N190S (p.Asn190Ser) variant of PICALM (Q13492)
N190S (p.Asn190Ser) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
N190S (p.Asn190Ser) variant details
- p.Asn190Ser
- gnomAD rs1409030565
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.39
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available