S35P (p.Ser35Pro) variant of HLA-DQB1 (P01920)
S35P (p.Ser35Pro) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S35P (p.Ser35Pro) variant details
- p.Ser35Pro
- rs12722106
- cosmic curated COSV66569
- UniProt VAR 062688
- 1000Genomes rs12722106
- Benign
- in allele DQB1*06:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.18
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.17
- 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
- Literature evidence available