I65T (p.Ile65Thr) variant of LRBA (P50851)
I65T (p.Ile65Thr) in LRBA (P50851) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Combined immunodeficiency due to LRBA deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
I65T (p.Ile65Thr) variant details
- p.Ile65Thr
- rs148385798
- ClinGen CA3103947
- ClinVar RCV000768012
- ClinVar RCV003918252
- Conflicting interpretations
- Combined immunodeficiency due to LRBA deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- MetaLR 0.15
- MetaSVM -0.84
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Combined immunodeficiency due to LRBA deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)