P16T (p.Pro16Thr) variant of MAP2K2 (P36507)
P16T (p.Pro16Thr) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; Cardiofaciocutaneous syndrome 4; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P16T (p.Pro16Thr) variant details
- p.Pro16Thr
- rs904859028
- ClinGen CA304449330
- ClinVar RCV000761005
- ClinVar RCV002533858
- Uncertain significance
- RASopathy; Cardiofaciocutaneous syndrome 4; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.16
- CADD 18.10
- PolyPhen-2 0.07
- SIFT 0.12
- ClinVar: Uncertain significance (RASopathy; Cardiofaciocutaneous syndrome 4; Noonan syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: Noonan Syndrome. (PMID 20301303)