V39A (p.Val39Ala) variant of COL11A1 (Collagen alpha-1(XI) chain)
V39A (p.Val39Ala) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- rs1219599526
- ClinGen CA341168923
- cosmic curated COSV10648
- ClinVar RCV003580139
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 22.80
- PolyPhen-2 0.25
- SIFT 0.19
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available