R34I (p.Arg34Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
R34I (p.Arg34Ile) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R34I (p.Arg34Ile) variant details
- p.Arg34Ile
- cosmic curated COSV62171
- TOPMed rs1407144872
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.08
- ESM-1b 0.67
- AlphaMissense 0.18
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available