A335T (p.Ala335Thr) variant of G6PD (P11413)
A335T (p.Ala335Thr) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due to G6PD deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A335T (p.Ala335Thr) variant details
- p.Ala335Thr
- rs5030869
- ClinGen CA120943
- ClinVar RCV000011081
- ClinVar RCV000180546
- Pathogenic
- Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due to G6PD deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.61
- CADD 22.80
- PolyPhen-2 0.57
- SIFT 0.01
- ClinVar: Pathogenic (Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due t)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Three major glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in Mazandaran state of Iran. (PMID 12028056)
- Cited in: G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation. (PMID 2503817)