P115S (p.Pro115Ser) variant of ACVR1 (Activin receptor type-1)
P115S (p.Pro115Ser) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P115S (p.Pro115Ser) variant details
- p.Pro115Ser
- cosmic curated COSV55124
- UniProt VAR 041395
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.14
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in a melanoma sample)
- UniProt: Uncertain significance (in a melanoma sample)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)