P21A (p.Pro21Ala) variant of DNMT1 (P26358)
P21A (p.Pro21Ala) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, 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 0.74 / 1. The record also includes published literature and structural context.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- rs2145417655
- ClinGen CA403950179
- ClinVar RCV001965678
- Ensembl rs2145417655
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.53
- MetaLR 0.72
- MetaSVM 0.61
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.69
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)