H97R (p.His97Arg) variant of DNMT1 (P26358)
H97R (p.His97Arg) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Hereditary sensory neuropathy-deafness-dementia syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
H97R (p.His97Arg) variant details
- p.His97Arg
- rs16999593
- ClinGen CA9188801
- cosmic curated COSV61577
- ClinVar RCV000246863
- Benign
- not specified; not provided; Hereditary sensory neuropathy-deafness-dementia syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.02
- CADD 12.10
- PolyPhen-2 0.24
- SIFT 0.53
- ClinVar: Benign (not specified; not provided; Hereditary sensory neuropathy-deafn)
- EBI: Benign (in dbSNP:rs16999593)
- UniProt: Benign (in dbSNP:rs16999593)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)