V120L (p.Val120Leu) variant of DNMT1 (P26358)
V120L (p.Val120Leu) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary sensory neuropathy-deafness-dementia syndrome; not specified; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
V120L (p.Val120Leu) variant details
- p.Val120Leu
- rs75616428
- ClinGen CA9188782
- cosmic curated COSV10743
- ClinVar RCV000543299
- Benign
- Hereditary sensory neuropathy-deafness-dementia syndrome; not specified; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.02
- CADD 6.01
- PolyPhen-2 0.09
- SIFT 0.36
- ClinVar: Benign (Hereditary sensory neuropathy-deafness-dementia syndrome; not sp)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)