S3N (p.Ser3Asn) variant of LRBA (P50851)
S3N (p.Ser3Asn) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- ExAC rs200690075
- gnomAD rs200690075
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- MetaLR 0.28
- MetaSVM -0.69
- CADD 23.70
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0029)