N124S (p.Asn124Ser) variant of LRBA (P50851)
N124S (p.Asn124Ser) in LRBA (P50851) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
N124S (p.Asn124Ser) variant details
- p.Asn124Ser
- gnomAD rs949161020
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- MetaLR 0.46
- MetaSVM -0.09
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)