S23L (p.Ser23Leu) variant of COL5A2 (Collagen alpha-2(V) chain)
S23L (p.Ser23Leu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S23L (p.Ser23Leu) variant details
- p.Ser23Leu
- rs1335028282
- ClinGen CA349986224
- ClinVar RCV001769157
- ClinVar RCV003594152
- Conflicting interpretations
- not provided; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.30
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.99
- ClinVar: Conflicting classifications of pathogenicity (not provided; Ehlers-Danlos syndrome, classic type, 1)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)