R20Q (p.Arg20Gln) variant of PMS2 (P54278)
R20Q (p.Arg20Gln) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Lynch syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- rs10254120
- ClinGen CA012376
- cosmic curated COSV56151
- ClinVar RCV000034632
- Benign
- Lynch syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.43
- AlphaMissense 0.18
- MetaLR 0.65
- MetaSVM 0.18
- CADD 18.70
- PolyPhen-2 0.88
- ClinVar: Benign (Lynch syndrome 4)
- EBI: Benign (in LYNCH4)
- UniProt: Benign (in LYNCH4)
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). (PMID 16472587)
- Cited in: Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. (PMID 20205264)