K43R (p.Lys43Arg) variant of DNMT1 (P26358)
K43R (p.Lys43Arg) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary sensory neuropathy-deafness-dementia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
K43R (p.Lys43Arg) variant details
- p.Lys43Arg
- gnomAD rs1264838175
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.06
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available