V10I (p.Val10Ile) variant of FGFR4 (P22455)
V10I (p.Val10Ile) in FGFR4 (P22455) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V10I (p.Val10Ile) variant details
- p.Val10Ile
- rs1966265
- ClinGen CA3575785
- cosmic curated COSV52803
- ClinVar RCV001713551
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.26
- CADD 0.49
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs1966265)
- UniProt: Benign (in dbSNP:rs1966265)
- Most common in the HGDP:TUJIA population (allele frequency 0.8)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: PAX3-FOXO1 and FGFR4 in alveolar rhabdomyosarcoma. (PMID 21882254)