N119S (p.Asn119Ser) variant of LAMP2 (P13473)
N119S (p.Asn119Ser) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
N119S (p.Asn119Ser) variant details
- p.Asn119Ser
- ExAC rs773248859
- gnomAD rs773248859
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.32
- CADD 24.40
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.8e-05)