M26V (p.Met26Val) variant of SOX9 (Transcription factor SOX-9)
M26V (p.Met26Val) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Camptomelic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
M26V (p.Met26Val) variant details
- p.Met26Val
- rs575451633
- ClinGen CA8738869
- cosmic curated COSV55425
- ClinVar RCV001518396
- Benign
- not provided; Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.38
- MetaLR 0.40
- MetaSVM -0.38
- CADD 23.70
- PolyPhen-2 0.06
- SIFT 0.06
- ClinVar: Benign (not provided; Camptomelic dysplasia)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)