P49T (p.Pro49Thr) variant of HLA-DPA1 (P20036)
P49T (p.Pro49Thr) in HLA-DPA1 (P20036) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele DPA1*04:01. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P49T (p.Pro49Thr) variant details
- p.Pro49Thr
- rs2308907
- UniProt VAR 058833
- 1000Genomes rs2308907
- ESP rs2308907
- Benign
- in allele DPA1*04:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.12
- CADD 23.30
- PolyPhen-2 0.89
- SIFT 0.03
- EBI: Benign (in allele DPA1*04:01)
- UniProt: Benign (in allele DPA1*04:01)
- Most common in the HGDP:LAHU population (allele frequency 0.3)
- Structural context available