P91S (p.Pro91Ser) variant of COL11A1 (Collagen alpha-1(XI) chain)
P91S (p.Pro91Ser) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P91S (p.Pro91Ser) variant details
- p.Pro91Ser
- rs747506988
- NCI-TCGA Cosmic COSV6219
- cosmic curated COSV62190
- ExAC rs747506988
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available