M41V (p.Met41Val) variant of SATB2 (DNA-binding protein SATB2)
M41V (p.Met41Val) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Chromosome 2q32-q33 deletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
M41V (p.Met41Val) variant details
- p.Met41Val
- rs919635073
- ClinGen CA64293422
- ClinVar RCV002087556
- gnomAD rs919635073
- Benign
- Chromosome 2q32-q33 deletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Benign (Chromosome 2q32-q33 deletion syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)