S229N (p.Ser229Asn) variant of HLA-DQB1 (P01920)
S229N (p.Ser229Asn) in HLA-DQB1 (P01920) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele DQB1*06:01. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S229N (p.Ser229Asn) variant details
- p.Ser229Asn
- rs1130429
- cosmic curated COSV66571
- UniProt VAR 062754
- 1000Genomes rs1130429
- Benign
- in allele DQB1*06:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.11
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.13
- EBI: Benign (in allele DQB1*06:01)
- UniProt: Benign (in allele DQB1*06:01)
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available