R12P (p.Arg12Pro) variant of COL11A1 (Collagen alpha-1(XI) chain)
R12P (p.Arg12Pro) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fibrochondrogenesis 1; Inborn genetic diseases; Stickler syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature and structural context.
R12P (p.Arg12Pro) variant details
- p.Arg12Pro
- rs767496065
- ClinGen CA10607219
- ClinVar RCV000312535
- ClinVar RCV000367252
- Uncertain significance
- Fibrochondrogenesis 1; Inborn genetic diseases; Stickler syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.17
- MetaSVM -0.82
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (Fibrochondrogenesis 1; Inborn genetic diseases; Stickler syndrom)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)