R31T (p.Arg31Thr) variant of COL11A1 (Collagen alpha-1(XI) chain)
R31T (p.Arg31Thr) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R31T (p.Arg31Thr) variant details
- p.Arg31Thr
- rs1166096502
- ClinGen CA341159210
- ClinVar RCV003811082
- ClinVar RCV005545112
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)