P135S (p.Pro135Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
P135S (p.Pro135Ser) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
P135S (p.Pro135Ser) variant details
- p.Pro135Ser
- ExAC rs780128263
- gnomAD rs780128263
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available