R25Q (p.Arg25Gln) variant of SHMT2 (P34897)
R25Q (p.Arg25Gln) in SHMT2 (P34897) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Neurodevelopmental disorder with cardiomyopathy, spasti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- rs375322221
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV61074
- ESP rs375322221
- Uncertain significance
- Inborn genetic diseases; Neurodevelopmental disorder with cardiomyopathy, spasti
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.12
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; Neurodevelopmental disorder with cardio)
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.33)
- Structural context available