H48R (p.His48Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
H48R (p.His48Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
H48R (p.His48Arg) variant details
- p.His48Arg
- gnomAD rs1186262161
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.06
- CADD 19.00
- PolyPhen-2 0.03
- SIFT 0.86
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available