I18V (p.Ile18Val) variant of PMS2 (P54278)
I18V (p.Ile18Val) in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in LYNCH4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- rs63750123
- ClinGen CA012251
- cosmic curated COSV56149
- ClinVar RCV000034629
- Benign
- in LYNCH4
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.64
- AlphaMissense 0.29
- MetaLR 0.77
- MetaSVM 0.69
- CADD 24.90
- PolyPhen-2 1.00
- EBI: Benign (in LYNCH4)
- UniProt: Benign (in LYNCH4)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). (PMID 16472587)
- Cited in: Long-range PCR facilitates the identification of PMS2-specific mutations. (PMID 16619239)