P20A (p.Pro20Ala) variant of EYA1 (Protein phosphatase EYA1)
P20A (p.Pro20Ala) in EYA1 (Protein phosphatase EYA1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Melnick-Fraser syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- rs1445404
- ClinGen CA142606
- cosmic curated COSV58160
- ClinVar RCV000041394
- Benign
- Melnick-Fraser syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.27
- MetaLR 0.00
- MetaSVM -1.12
- CADD 22.40
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Benign (Melnick-Fraser syndrome; not specified; not provided)
- EBI: Benign (in dbSNP:rs1445404)
- UniProt: Benign (in dbSNP:rs1445404)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Branchiootorenal Spectrum Disorder. (PMID 20301554)