Y44N (p.Tyr44Asn) variant of PICALM (Q13492)
Y44N (p.Tyr44Asn) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Y44N (p.Tyr44Asn) variant details
- p.Tyr44Asn
- gnomAD rs1203356239
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.33
- CADD 28.50
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available