P51R (p.Pro51Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
P51R (p.Pro51Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P51R (p.Pro51Arg) variant details
- p.Pro51Arg
- ExAC rs771956360
- gnomAD rs771956360
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 24.50
- PolyPhen-2 0.84
- SIFT 0.25
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available